Department of Human Genetics, McGill University, Montréal, Québec, Canada.
The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.
Ann Clin Transl Neurol. 2023 Sep;10(9):1682-1687. doi: 10.1002/acn3.51841. Epub 2023 Jul 4.
Synucleinopathies-related disorders such as Lewy body dementia (LBD) and isolated/idiopathic REM sleep behavior disorder (iRBD) have been associated with neuroinflammation. In this study, we examined whether the human leukocyte antigen (HLA) locus plays a role in iRBD and LBD. In iRBD, HLA-DRB1*11:01 was the only allele passing FDR correction (OR = 1.57, 95% CI = 1.27-1.93, p = 2.70e-05). We also discovered associations between iRBD and HLA-DRB1 70D (OR = 1.26, 95%CI = 1.12-1.41, p = 8.76e-05), 70Q (OR = 0.81, 95%CI = 0.72-0.91, p = 3.65e-04) and 71R (OR = 1.21, 95%CI = 1.08-1.35, p = 1.35e-03). Position 71 (p = 0.00102) and 70 (p = 0.00125) were associated with iRBD. Our results suggest that the HLA locus may have different roles across synucleinopathies.
突触核蛋白病相关疾病,如路易体痴呆(LBD)和孤立/特发性 REM 睡眠行为障碍(iRBD)与神经炎症有关。在这项研究中,我们研究了人类白细胞抗原(HLA)基因座是否在 iRBD 和 LBD 中起作用。在 iRBD 中,HLA-DRB1*11:01 是唯一通过 FDR 校正的等位基因(OR=1.57,95%CI=1.27-1.93,p=2.70e-05)。我们还发现 iRBD 与 HLA-DRB1 70D(OR=1.26,95%CI=1.12-1.41,p=8.76e-05)、70Q(OR=0.81,95%CI=0.72-0.91,p=3.65e-04)和 71R(OR=1.21,95%CI=1.08-1.35,p=1.35e-03)之间存在关联。位置 71(p=0.00102)和 70(p=0.00125)与 iRBD 相关。我们的结果表明,HLA 基因座在突触核蛋白病中可能具有不同的作用。